Before we left, our oldest son, George had begun showing signs of unusual illness. He complained of fatigue and sore joints, but we chalked it up to the usual end-of-term tiredness and growing pains. George, an incredibly active boy, rarely complained, but still we didn’t think much of it. Hindsight, of course, is a wonderful thing.

A week into our trip, George began feeling nauseous. We were on the road a lot, so we attributed it to car sickness. Despite his discomfort, he kept up with everything—hiking, swimming, and even swimming with whale sharks—without a word of complaint. His fatigue seemed to increase, but we still brushed it off as travel exhaustion.

Mother’s Day 2022 marked the first real sign that something more serious was going on. We woke up in the caravan in Exmouth, Western Australia, to find George vomiting. We were about to head to a remote part of Western Australia, Karijini National Park, so we decided to take him to see a doctor before leaving. The doctor did a urine test, which showed no infection, and suggested it might be a virus. She advised that if George didn’t vomit again overnight, we could continue on with our plans.

The next day, George managed to eat a cheeseburger and keep it down, and we thought he was on the mend. But over the next two weeks, he continued to vomit every 2-3 days. We blamed it on everything from lactose intolerance to heat, a bug, and even anxiety. Through it all, George kept pushing through—still doing everything we planned for the trip, with no complaints.

By the time we arrived in Broome at the end of May, we were beginning to get more worried. George was still vomiting regularly, though he seemed to recover quickly each time. We tried to book a doctor’s appointment, but all the surgeries were booked out. We called our family doctor back in Ballarat, who suggested George might be dehydrated and encouraged us to work on getting fluids into him. We also began to notice his skin appeared “washed out,” but we never thought to connect it to anything serious.

Two days before leaving Broome for more remote areas, we decided to take George to the emergency department for a quick check-up. When we arrived, the nurse’s first question was, “Have you noticed his skin or eyes turning yellow?” It was the first time anyone had pointed this out, and it hit me hard. The nurse had noticed the obvious sign that we, as his parents, had missed entirely.

Over the next few hours, George was pricked and prodded as doctors struggled to find veins for blood tests. Eventually, they confirmed that George was in acute liver failure. That’s when everything changed. The doctors weren’t sure what caused it, but further tests would need to be done at Perth Children’s Hospital. Perth was over 2,200 km away, and the only way to get George there was via the Royal Flying Doctors Service—a small plane with two other patients, flying during a severe storm.

Due to COVID restrictions, Nathan, Hugh, and Olivia were not allowed to visit us, and I couldn’t leave the hospital. Nathan and the kids packed up the caravan and began a long drive back down the west coast, driving 10-12 hours a day to get to us in Perth.

We arrived in Perth just as my sister and her daughter did—both making the long trip from Victoria to support us. We were still over 3,200 kilometres from our family and friends back home, and having them there made such the difference – Nathan, Hugh and Liv were still driving. George spent two difficult nights at Perth Children’s Hospital, and by then, his jaundice had worsened. That’s when we first heard the term Wilson Disease. The doctors explained it was one of the many tests they were running to help understand why George’s liver was failing. It was also the first time we heard the word transplant. The doctors told us that, if his condition didn’t improve, George might need a liver transplant to survive.” After two days in Perth, we received the news that they had a flight arranged to Melbourne. The medical team arranged for us to travel on a private medic-plane, accompanied by a pediatric ICU nurse, who would complete the handover once we arrived in Melbourne.

Once we arrived in Melbourne, everything moved quickly. Within 24 hours, the diagnosis of Wilson Disease was confirmed. The gastroenterology team at the Royal Children’s Hospital (RCH) immediately began a treatment plan aimed at saving George’s liver, which included:

• Immediate Trientine (a medication to remove excess copper), eventually increasing the dosage to a full-grown adult dose, despite George being only 12.
• Plasma exchanges to try to strip the excess copper from his system.
• And a range of other medications to support his liver function.

After 4-5 plasma exchanges, George’s liver did not improve, and he was placed on the liver transplant list. This was a devastating blow, but the support we received from the transplant team helped us prepare for the possibility.

Just a week later, however, we received unexpected news: George’s liver was regenerating. The doctors explained that, while his liver had not made a full recovery, it had improved enough that he would not need a transplant—at least for now. This was a huge relief, but also a confusing moment for us. What did this mean? Could this be a temporary fix? Would his liver hold up long-term?

Five weeks after arriving at the hospital, George was discharged. Though his liver has not fully recovered, his liver function is good enough for him to lead an almost normal life. He’s back to playing sports, hanging out with his friends, and doing everything a typical teenage boy does. But there are still many unknowns. We recently had his first liver biopsy, and we’re awaiting more information on his prognosis.

After George’s diagnosis, the RCH immediately organized genetic testing for our whole family. It turns out that Hugh also has Wilson Disease, but he remains asymptomatic. He’s now taking Penicillamine and zinc. Olivia is a carrier, like Nathan and me. While it’s been a lot to process, we feel incredibly lucky to be alive in a time where we have access to the right medications and testing to support our family.

I found the Wilson Disease Association page on Instagram shortly after George’s and Hugh’s diagnoses, and it’s been a tremendous source of information and support. We’ve yet to meet anyone else with Wilson Disease in Australia, but the patient stories shared on the page have been invaluable to us. Thank you for providing this connection.

Our journey took an unexpected turn, but through it all, our family has grown stronger. While we don’t know what the future holds for George’s liver, we forever remain hopeful.